Variant report

Variant	rs73727137
Chromosome Location	chr6:30902798-30902799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr6:30902725-30903177	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30692214..30695086-chr6:30900554..30903279,2	K562	blood:
2	chr6:30902336..30907569-chr6:30907613..30911595,7	K562	blood:
3	chr6:30901740..30904326-chr6:30904542..30906468,2	K562	blood:

Variant related genes	Relation type
ENSG00000252761	TF binding region
SFTA2	TF binding region
ENSG00000168631	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10456390	0.86[ASN][1000 genomes]
rs11757361	1.00[ASN][1000 genomes]
rs12193866	0.86[ASN][1000 genomes]
rs12196019	0.86[ASN][1000 genomes]
rs12196237	0.80[ASN][1000 genomes]
rs12197587	0.86[ASN][1000 genomes]
rs12201301	0.86[ASN][1000 genomes]
rs12207025	0.86[ASN][1000 genomes]
rs12212799	0.80[ASN][1000 genomes]
rs13191523	0.86[ASN][1000 genomes]
rs13212987	0.86[ASN][1000 genomes]
rs17189812	0.80[ASN][1000 genomes]
rs17189826	0.86[ASN][1000 genomes]
rs3094086	1.00[ASN][1000 genomes]
rs3095152	0.82[ASN][1000 genomes]
rs3095153	0.82[ASN][1000 genomes]
rs3130781	0.82[ASN][1000 genomes]
rs3132580	1.00[ASN][1000 genomes]
rs3132581	1.00[ASN][1000 genomes]
rs55883436	0.83[EUR][1000 genomes]
rs73727119	1.00[ASN][1000 genomes]
rs73727120	1.00[ASN][1000 genomes]
rs73727123	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30894800-30903000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr6:30894800-30905000	Weak transcription	Right Ventricle	heart
3	chr6:30896000-30904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:30896600-30905800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:30897000-30904000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:30897000-30905600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:30897000-30905800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:30897000-30909800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:30897200-30905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:30897400-30903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:30899200-30903400	Enhancers	Fetal Intestine Large	intestine
12	chr6:30899200-30904200	Enhancers	Fetal Intestine Small	intestine
13	chr6:30899400-30904600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:30900200-30904000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:30900200-30904000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:30900200-30906800	Enhancers	Stomach Mucosa	stomach
17	chr6:30900800-30902800	Weak transcription	Small Intestine	intestine
18	chr6:30901000-30902800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:30901000-30905000	Weak transcription	Esophagus	oesophagus
20	chr6:30902000-30906200	Weak transcription	Pancreas	Pancrea
21	chr6:30902200-30903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:30902200-30903200	Enhancers	HMEC	breast
23	chr6:30902200-30904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:30902400-30903200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:30902600-30903200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:30902600-30903200	Enhancers	NHEK	skin
27	chr6:30902600-30903400	Enhancers	Hela-S3	cervix
28	chr6:30902600-30904000	Weak transcription	Lung	lung

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